Rita Horvath Selected Research

Cytochrome-c Oxidase Deficiency

1/2022	Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.
1/2018	Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.
7/2011	Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation.
11/2010	Clinical and neuropathological findings in patients with TACO1 mutations.
8/2010	OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.
7/2009	Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
10/2003	Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

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Rita Horvath Research Topics

Disease

36	Mitochondrial Diseases (Mitochondrial Disease) 10/2021 - 10/2008
14	Ataxia (Dyssynergia) 01/2021 - 07/2005
9	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 11/2022 - 11/2017
8	Muscular Diseases (Myopathy) 10/2021 - 07/2005
7	Disease Progression 11/2022 - 11/2011
7	Cytochrome-c Oxidase Deficiency 01/2022 - 10/2003
7	Mitochondrial Myopathies (Mitochondrial Myopathy) 10/2021 - 08/2007
6	Epilepsy (Aura) 01/2021 - 11/2010
6	Peripheral Nervous System Diseases (PNS Diseases) 01/2021 - 05/2012
5	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2020 - 09/2014
4	Brain Diseases (Brain Disorder) 01/2022 - 03/2008
4	Inborn Genetic Diseases (Disease, Hereditary) 01/2019 - 03/2011
4	Cerebellar Ataxia (Dysmetria) 12/2018 - 11/2014
4	Cardiomyopathies (Cardiomyopathy) 01/2018 - 11/2011
4	Liver Failure 01/2016 - 02/2011
4	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 07/2011 - 12/2005
3	Seizures (Absence Seizure) 01/2022 - 01/2018
3	Drug Resistant Epilepsy 01/2022 - 12/2013
3	Atrophy 10/2021 - 01/2018
3	Rare Diseases (Rare Disease) 01/2021 - 01/2017
3	Brown-Vialetto-Van Laere syndrome 01/2021 - 01/2014
3	Leigh Disease (Leigh's Disease) 01/2021 - 07/2009
3	Lactic Acidosis 01/2020 - 10/2012
3	Neuromuscular Diseases (Neuromuscular Disease) 01/2020 - 01/2019
3	Dystonia (Limb Dystonia) 01/2019 - 05/2012
3	Spastic ataxia Charlevoix-Saguenay type 12/2018 - 12/2013
3	Optic Atrophy 11/2017 - 05/2012
3	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2015 - 08/2004
3	Hereditary Myopathy with Early Respiratory Failure 04/2014 - 06/2012
2	Type 2D Charcot-Marie-Tooth disease 11/2022 - 01/2020
2	Microcephaly 01/2022 - 01/2020
2	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 01/2022 - 01/2016
2	Metabolic Diseases (Metabolic Disease) 01/2022 - 12/2014
2	Muscle Hypotonia (Hypotonia) 01/2021 - 01/2018
2	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 01/2021 - 01/2019
2	Muscle Weakness 01/2021 - 11/2011
2	Carcinogenesis 10/2019 - 01/2018
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 10/2019 - 01/2018
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 10/2018 - 07/2014
2	Hearing Loss (Hearing Impairment) 01/2018 - 01/2016
2	Tremor (Tremors) 01/2018 - 12/2016
2	Liver Diseases (Liver Disease) 01/2016 - 01/2011
2	Leukoencephalopathies 01/2015 - 06/2009
2	Migraine Disorders (Migraine) 05/2014 - 11/2010
2	Headache Disorders (Headache Syndromes) 05/2014 - 11/2010
2	Bipolar Disorder (Manic Depressive Psychosis) 05/2014 - 11/2010
2	Respiratory Insufficiency (Respiratory Failure) 03/2014 - 12/2013
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2013 - 07/2011
2	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 07/2012 - 08/2007
2	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 12/2011 - 01/2007
2	Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease) 11/2010 - 05/2009
1	Glioma (Gliomas) 01/2022
1	Gliosis 01/2022
1	Cicatrix (Scar) 01/2022

Drug/Important Bio-Agent (IBA)

36	Mitochondrial DNA (mtDNA)IBA 10/2021 - 08/2004
24	Proteins (Proteins, Gene)FDA Link 11/2022 - 11/2011
12	EnzymesIBA 01/2022 - 02/2010
8	Biomarkers (Surrogate Marker)IBA 11/2022 - 08/2013
7	DNA (Deoxyribonucleic Acid)IBA 10/2021 - 01/2011
6	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2022 - 07/2009
6	Riboflavin (Vitamin B2)FDA LinkGeneric 10/2021 - 07/2012
6	Transfer RNA (tRNA)IBA 01/2021 - 05/2015
6	coenzyme Q10 (CoQ10)IBA 01/2020 - 08/2007
4	LipidsIBA 10/2021 - 08/2007
4	Ligases (Synthetase)IBA 01/2021 - 01/2015
3	Amino Acids FDA Link 12/2020 - 01/2015
3	Cholinergic ReceptorsIBA 01/2020 - 08/2006
3	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2019 - 03/2014
3	Synaptotagmin IIIBA 01/2017 - 09/2014
3	ConnectinIBA 04/2014 - 06/2012
2	Metalloproteases (Metalloproteinases)IBA 01/2022 - 03/2016
2	Nonsense Codon (Nonsense Mutation)IBA 01/2022 - 01/2020
2	Serine (L-Serine)FDA Link 01/2021 - 01/2021
2	Phosphotransferases (Kinase)IBA 10/2020 - 03/2014
2	Exosome Multienzyme Ribonuclease ComplexIBA 01/2020 - 01/2018
2	fibroblast growth factor 21IBA 01/2020 - 11/2016
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2020 - 01/2018
2	IronIBA 01/2019 - 05/2012
2	Retinaldehyde (Retinal)IBA 12/2018 - 05/2014
2	Carrier Proteins (Binding Protein)IBA 01/2018 - 01/2018
2	Messenger RNA (mRNA)IBA 11/2017 - 07/2014
2	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 05/2017 - 07/2012
2	Cysteine (L-Cysteine)FDA Link 01/2016 - 12/2011
2	RNA (Ribonucleic Acid)IBA 01/2015 - 01/2011
2	Valproic Acid (Depakote)FDA LinkGeneric 05/2014 - 11/2010
2	Creatine Kinase (Creatine Phosphokinase)IBA 05/2012 - 11/2011
2	Lys Transfer RNAIBA 12/2011 - 01/2007
2	DNA Polymerase gammaIBA 11/2010 - 07/2005
1	Neural Cell Adhesion Molecules (Neural Cell Adhesion Molecule)IBA 11/2022
1	Wiskott-Aldrich Syndrome ProteinIBA 01/2022
1	MetallochaperonesIBA 01/2022
1	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 01/2022
1	Pharmaceutical PreparationsIBA 01/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	Glycoproteins (Glycoprotein)IBA 01/2022
1	DisintegrinsIBA 01/2022
1	triheptanoinIBA 01/2022

Therapy/Procedure

13	Therapeutics 01/2021 - 01/2007
3	Ketogenic Diet 01/2022 - 10/2010
1	Denervation 11/2022